dmd

1. Duchenne
Muscular Dystrophy

2. What Is Duchenne Muscular
Dystrophy?(1)
 Genetic
 Progressive muscle weakness
 Defects in muscle proteins
 Death of muscle tissue

3. Where is This Gene?

4. Duchenne Muscular Dystrophy
Inheritance(1)
 Mother carries the recessive gene and
passes it to her child
 Trait is usually expressed in
males only

5. Prevalence of DMD(1)
 Affects one in 3500
to 5000 newborn
males
 1/3 of these with
previous family
history
 2/3 sporadic

6. Symptoms of DMD(1)
 Delayed developmental milestones
 Loss of motor skills
 Characteristic gait
 Calf hypertrophy
 Clumsiness/frequent falls

7. More Symptoms of DMD(1)
 Muscle weakness
 Difficulty climbing stairs or hills
 Difficulty rising (Gower’s sign)
 Difficulty walking/running

9. Treatments for DMD (1)
 To improve breathing:
 O2 therapy
 Ventilator
 Scoliosis surgery
 Tracheotomy

10. Treatments (cont.) (1)
 To improve mobility:
 Physical therapy
 Surgery on tight joints
 Prednisone
 Non-steroidal medications
 Wheelchair

11. The Beginning of Gene Therapy
for DMD (2)

12. Problems with Gene Therapy(3)
 Muscle tissue is large and relatively
impenetrable
 Viruses might provoke the immune system
and cause the destruction of muscle fibers
with the new genes

13. Complications